ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val)

gnomAD frequency: 0.00002  dbSNP: rs747436583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167990 SCV000218640 uncertain significance Autosomal recessive polycystic kidney disease 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1297 of the PKHD1 protein (p.Ala1297Val). This variant is present in population databases (rs747436583, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 188126). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PKHD1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002485043 SCV002790762 uncertain significance Polycystic kidney disease 4 2022-02-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000167990 SCV002080976 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-04 no assertion criteria provided clinical testing

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